A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258334



Internal ID22278795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:98440433..98446796hg38UCSC Ensembl
Outerchr14:98906770..98913133hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386364
hg196364
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224620
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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